perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2025-70-6-116-126perinatology-2321Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУFOR THE PRACTITIONERАутовоспаление — новая концепция, новые нозологии. Как распознать и что делать?Autoinflammation is a new concept, new nosologies. How to recognize it and what to do?https://orcid.org/0000-0003-3689-431XСалугинаС. О.SaluginaS. O.

Салугина Светлана Олеговна — д.м.н., ведущий научный сотрудник лаборатории ревматических заболеваний детского возраста

115522, г. Москва, Каширское шоссе, д. 34А 

15522, Moscow

pafon1@yandex.ruhttps://orcid.org/0000-0002-2282-1745ФедоровЕ. С.FedorovЕ. S.

Федоров Евгений Станиславович — к.м.н., с.н.с. лаборатории ревматических заболеваний детского возраста

115522, г. Москва, Каширское шоссе, д. 34А 

15522, Moscow

ФГБНУ «Научно-исследовательский институт ревматологии имени В.А. Насоновой»РоссияNasonova Research Institute of RheumatologyRussian Federation202530122025706116126Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20252025Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/2321

Аутовоспалительные заболевания объединяются в большую группу патологий генетической или мультифакторной природы, характеризующихся ранним дебютом, повторными эпизодами системного воспаления (лихорадка, сыпь, повышение уровня острофазовых белков), не связанного с инфекциями или другими более распространенными причинами у детей. Нередко у больных отягощен семейный анамнез: встречаются аналогичные случаи среди членов семьи. Полиморфизм клинических проявлений аутовоспалительных заболеваний обуславливает необходимость мультидисциплинарного подхода; их изучением занимаются во всем мире врачи различных специальностей: педиатры, иммунологи, аллергологи, ревматологи, гематологи и др.В статье освещены вопросы диагностики и дифференциальной диагностики, клинико-лабораторных проявлений, генетической диагностики, осложнений, терапевтических подходов, алгоритмов более быстрой постановки диагноза, ранней и своевременной терапии. Затронутые вопросы касаются, в основном, наиболее изученных и чаще других встречающихся в реальной клинической практике периодических лихорадок у детей: семейная средиземноморская лихорадка, криопирин-- ассоциированные периодические синдромы, периодический лихорадочный синдром, ассоциированный с мутацией гена рецептора фактора некроза опухоли-альфа, синдром дефицита мевалонат-киназы.

Autoinflammatory diseases are grouped into a large group of pathologies of a genetic or multifactorial nature, characterized by early onset, repeated episodes of systemic inflammation (fever, rash, increased levels of acute phase proteins), unrelated to infections or other more common causes in children. Patients often have a family history that is burdened: there are similar cases among family members. The polymorphism of clinical manifestations of autoinflammatory diseases necessitates a multidisciplinary approach; They are studied all over the world by doctors of various specialties: pediatricians, immunologists, allergologists, rheumatologists, hematologists, etc. The article highlights the issues of diagnosis and differential diagnosis, clinical and laboratory manifestations, genetic diagnosis, complications, therapeutic approaches, algorithms for faster diagnosis, early and timely therapy. The issues raised relate mainly to the most studied and most common recurrent fevers in children in real clinical practice: familial Mediterranean fever, cryopyrin-associated recurrent syndromes, recurrent febrile syndrome associated with mutation of the tumor necrosis factor alpha receptor gene, mevalonate kinase deficiency syndrome.

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The authors declare that there are no conflicts of interest present.